ClinVar

NM_001003694.2(BRPF1):c.3152G>A (p.Gly1051Asp)

Gene:

BRPF1:bromodomain and PHD finger containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 9745656 (on Assembly GRCh38)
• Chr3: 9787340 (on Assembly GRCh37)

Preferred name:

NM_001003694.2(BRPF1):c.3152G>A (p.Gly1051Asp)

HGVS:

• NC_000003.12:g.9745656G>A
• NG_012106.1:g.713G>A
• NG_052955.1:g.18928G>A
• NM_001003694.2:c.3152G>AMANE SELECT
• NM_001319049.2:c.2849G>A
• NM_001319050.2:c.3131G>A
• NM_004634.3:c.3134G>A
• NP_001003694.1:p.Gly1051Asp
• NP_001305978.1:p.Gly950Asp
• NP_001305979.1:p.Gly1044Asp
• NP_004625.2:p.Gly1045Asp
• NC_000003.11:g.9787340G>A
• NR_160918.1:n.3735G>A

This HGVS expression did not pass validation

Protein change:

G1044D

Links:

dbSNP: rs2125514693

NCBI 1000 Genomes Browser:

rs2125514693

Molecular consequence:

• NM_001003694.2:c.3152G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319049.2:c.2849G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319050.2:c.3131G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004634.3:c.3134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_160918.1:n.3735G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]